Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3310432012 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3310433019 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5401721014 | Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401722019 | Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterised by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leucoencephalopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3310432012 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3310432012 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3310433019 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3310433019 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3311535016 | Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311536015 | Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401721014 | Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401722019 | Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterised by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leucoencephalopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
524981000274112 | MNGIE-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
601301000274119 | Mitochondriale neurogastrointestinale Enzephalomyopathie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
524981000274112 | MNGIE-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
601301000274119 | Mitochondriale neurogastrointestinale Enzephalomyopathie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3444071001000115 | Enzephalomyopathie, mitochondriale neurogastrointestinale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)